HGVS | Genome Assembly |
---|---|
NC_000013.11:g.52397496C>T , CM000675.2:g.52397496C>T | GRCh38 |
NC_000013.10:g.52971631C>T , CM000675.1:g.52971631C>T | GRCh37 |
NC_000013.9:g.51869632C>T | NCBI36 |
NG_047168.1:g.13999G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258613.5:c.757G>A MANE Select | ENSP00000258613.4:p.Glu253Lys | |
ENST00000648254.1:c.757G>A | ENSP00000497520.1:p.Glu253Lys | |
ENST00000258613.4:c.757G>A | ENSP00000258613.4:p.Glu253Lys | |
ENST00000349258.8:c.757G>A | ENSP00000340650.4:p.Glu253Lys | |
NM_018676.3:c.757G>A | NP_061146.1:p.Glu253Lys | |
NM_199263.2:c.757G>A | NP_954872.1:p.Glu253Lys | |
NM_018676.4:c.757G>A MANE Select | NP_061146.1:p.Glu253Lys | |
NM_199263.3:c.757G>A | NP_954872.1:p.Glu253Lys |